M93.9

Case	Control
154	460051

Case

Control

154

460051

Top SNP Information

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds Ratio
chr4:23214983	rs76700586	-	C>A	25	25765	32.76	1.043e-08	3.099
chr6:9131484	rs72820248	-	C>T	29	33782	29.47	5.673e-08	2.755
chr11:89092855	rs117841375	NOX4	C>T	16	14075	28.14	1.128e-07	3.573
chr4:152902062	rs75856662	-	T>G	19	18701	27.69	1.421e-07	3.243
chr6:9056678	rs181862022	-	A>G	31	38800	27.26	1.78e-07	2.59
chr14:86887491	rs74405300	-	C>T	19	18701	27.12	1.915e-07	3.206
chr1:89322047	rs17099902	GTF2B	T>C	25	29498	25.2	5.16e-07	2.729
chr10:68474737	rs112248797	CTNNA3	T>C	14	12250	24.75	6.533e-07	3.57
chr9:133066377	rs117107218	HMCN2	C>T	13	11266	23.38	1.332e-06	3.598
chr7:105840939	rs117025836	-	G>A	17	17065	23.31	1.38e-06	3.129
chr13:106879671	rs72652664	-	T>C	15	14170	23.08	1.554e-06	3.314
chr19:51681357	rs113853183	-	C>A	17	17261	22.81	1.791e-06	3.095
chr19:11330942	rs17699030	DOCK6	A>G	27	34116	22.77	1.822e-06	2.525
chr19:55054628	rs78107621	-	G>A	23	27175	22.43	2.183e-06	2.677
chr20:45377342	rs73115593	-	T>C	26	32571	22.31	2.315e-06	2.541
chr17:13310381	rs62054030	-	G>A	112	232357	21.92	2.84e-06	1.72
chr9:23235373	rs62540211	-	C>T	27	34741	21.83	2.975e-06	2.481
chr20:3383127	rs74559361	C20orf194	C>T	41	62232	21.65	3.279e-06	2.138
chr6:42245299	rs73428826	TRERF1	T>C	44	68905	21.31	3.911e-06	2.081
chr15:29549093	rs72717856	FAM189A1	T>C	22	26057	21.29	3.951e-06	2.665

Associated Phenotypes ^ⓘ

ID	Name	Top Correlation
HP: 0002787	Tracheal calcification	10/20
HP: 0003088	Premature osteoarthritis	10/20
HP: 0005716	Lethal skeletal dysplasia	9/20
HP: 0006644	Thoracic dysplasia	10/20
HP: 0100773	Cartilage destruction	3/20

Name

Top Correlation

HP: 0002787

Tracheal calcification

10/20

HP: 0003088

Premature osteoarthritis

10/20

HP: 0005716

Lethal skeletal dysplasia

9/20

HP: 0006644

Thoracic dysplasia

10/20

HP: 0100773

Cartilage destruction

3/20

ID	Name	Top Correlation
HP: 0000118	Phenotypic abnormality	0/20
HP: 0000765	Abnormality of the thorax	0/20
HP: 0000924	Abnormality of the skeletal system	0/20
HP: 0000925	Abnormality of the vertebral column	0/20
HP: 0000940	Abnormal diaphysis morphology	0/20
HP: 0001367	Abnormal joint morphology	0/20
HP: 0001369	Arthritis	0/20
HP: 0001547	Abnormality of the rib cage	0/20
HP: 0002086	Abnormality of the respiratory system	0/20
HP: 0002087	Abnormality of the upper respiratory tract	0/20
HP: 0002652	Skeletal dysplasia	0/20
HP: 0002758	Osteoarthritis	0/20
HP: 0002763	Abnormal cartilage morphology	0/20
HP: 0002778	Abnormal trachea morphology	0/20
HP: 0002813	Abnormality of limb bone morphology	0/20
HP: 0002814	Abnormality of the lower limb	0/20
HP: 0002815	Abnormality of the knee	0/20
HP: 0002857	Genu valgum	0/20
HP: 0002979	Bowing of the legs	0/20
HP: 0002981	Abnormality of the calf	0/20
HP: 0002992	Abnormality of tibia morphology	0/20
HP: 0003304	Spondylolysis	0/20
HP: 0005607	Abnormal tracheobronchial morphology	0/20
HP: 0006487	Bowing of the long bones	0/20
HP: 0006504	obsolete Anomaly of the limb diaphyses morphology	0/20
HP: 0009121	Abnormal axial skeleton morphology	0/20
HP: 0010766	Ectopic calcification	0/20
HP: 0010885	Avascular necrosis	0/20
HP: 0010890	Morbus Osgood-Schlatter	0/20
HP: 0011314	Abnormality of long bone morphology	0/20
HP: 0011842	Abnormality of skeletal morphology	0/20
HP: 0011843	Abnormality of skeletal physiology	0/20
HP: 0011844	Abnormal appendicular skeleton morphology	0/20
HP: 0012252	Abnormal respiratory system morphology	0/20
HP: 0040064	Abnormality of limbs	0/20
HP: 0040068	Abnormality of limb bone	0/20
HP: 0040069	Abnormal lower limb bone morphology	0/20
HP: 0040188	Osteochondrosis	0/20
HP: 0100323	Juvenile aseptic necrosis	0/20
HP: 0100491	Abnormality of lower limb joint	0/20

Name

Top Correlation

HP: 0000118

Phenotypic abnormality

0/20

HP: 0000765

Abnormality of the thorax

0/20

HP: 0000924

Abnormality of the skeletal system

0/20

HP: 0000925